NCT03921554

JAK Inhibitor Treatment in AGS

Janus Kinase Inhibitor (Baricitinib) for Aicardi Goutières Syndrome

• Status: Completed
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 54 (actual)
• Sponsor: Adeline Vanderver, MD · Academic / Other
• Sex: All
• Age: 1 Month
• Healthy volunteers: Not accepted

Summary

The primary objective of this study is to assess safety as well as efficacy of baricitinib, a Janus Kinase (JAK) inhibitor, in patients with Aicardi Goutières Syndrome (AGS), a multisystem heritable disorder of the innate immunity resulting in excessive interferon production

Detailed description

Aicardi Goutières Syndrome (AGS) is a multisystem heritable disorder of the innate immunity resulting in excessive interferon production. Most characteristically, AGS manifests as an early-onset encephalopathy that results in severe intellectual and physical handicap. Interferon is thought to cause injury not only to the brain, but also the skin, liver, lungs, heart and many other organs. Treatment with Janus Kinase (JAK) inhibitors offers the promise of decreasing interferon signaling and limiting the morbidity of this devastating disorder. The primary objective is to determine if the administration of baricitinib to patients with AGS results in an improvement or stability of the AGS scale at baseline at 52 weeks. Secondary objectives will include longitudinal stability of safety measures, improvement of interferon signaling scores, improvement of GMFM-88 and functional measures of neurologic disability, and improvement of a daily disease severity scale, for the duration of the treatment period.

Conditions

• Aicardi Goutieres Syndrome

Interventions

Type	Name	Description
DRUG	Baricitinib	Baricitinib will be taken by mouth or via gastrostomy feeding tube or nasogastric tube as directed by the study doctor. Baricitinib will be dosed by patient age, weight range and estimated glomerular filtration rate (eGFR). Dosing formulations in use in this study will include 1 mg and 2 mg tablets and will be used without splitting. Dispersion will be permitted to aid in swallowing.

Timeline

• Start date: 2019-06-03
• Primary completion: 2024-01-04
• Completion: 2024-03-25
• First posted: 2019-04-19
• Last updated: 2025-12-30
• Results posted: 2025-02-12

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study